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68. [Juvenile and adult forms of spinal muscular atrophies]. Pou A Neurologia; 1996 Dec; 11 Suppl 5():43-57. PubMed ID: 9044573 [TBL] [Abstract][Full Text] [Related]
69. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Burghes AH; Ingraham SE; McLean M; Thompson TG; McPherson JD; Kote-Jarai Z; Carpten JD; DiDonato CJ; Ikeda JE; Surh L Genomics; 1994 May; 21(2):394-402. PubMed ID: 8088834 [TBL] [Abstract][Full Text] [Related]
70. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. van der Vleuten AJ; van Ravenswaaij-Arts CM; Frijns CJ; Smits AP; Hageman G; Padberg GW; Kremer H Eur J Hum Genet; 1998; 6(4):376-82. PubMed ID: 9781046 [TBL] [Abstract][Full Text] [Related]
71. Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. Sambuughin N; Sivakumar K; Selenge B; Lee HS; Friedlich D; Baasanjav D; Dalakas MC; Goldfarb LG J Neurol Sci; 1998 Nov; 161(1):23-8. PubMed ID: 9879677 [TBL] [Abstract][Full Text] [Related]
72. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Rudnik-Schöneborn S; Sztriha L; Aithala GR; Houge G; Laegreid LM; Seeger J; Huppke M; Wirth B; Zerres K Am J Med Genet A; 2003 Feb; 117A(1):10-7. PubMed ID: 12548734 [TBL] [Abstract][Full Text] [Related]
73. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787 [TBL] [Abstract][Full Text] [Related]
74. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Wirth B Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938 [TBL] [Abstract][Full Text] [Related]
76. Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance. Boylan KB; Cornblath DR Ann Neurol; 1992 Sep; 32(3):404-7. PubMed ID: 1416812 [TBL] [Abstract][Full Text] [Related]
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78. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Rodrigues NR; Owen N; Talbot K; Ignatius J; Dubowitz V; Davies KE Hum Mol Genet; 1995 Apr; 4(4):631-4. PubMed ID: 7633412 [TBL] [Abstract][Full Text] [Related]
79. High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5. Morrison KE; Daniels RJ; Suthers GK; Flynn GA; Francis MJ; Buckle VJ; Davies KE Am J Hum Genet; 1992 Mar; 50(3):520-7. PubMed ID: 1539593 [TBL] [Abstract][Full Text] [Related]
80. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Melki J; Lefebvre S; Burglen L; Burlet P; Clermont O; Millasseau P; Reboullet S; Bénichou B; Zeviani M; Le Paslier D Science; 1994 Jun; 264(5164):1474-7. PubMed ID: 7910982 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]